LEADER 03626nam  22005775  450 
001 9910253909703321
005 20200706080427.0
024 7 $a10.1007/978-3-319-43287-8
035   $a(CKB)3710000001083948
035   $a(DE-He213)978-3-319-43287-8
035   $a(MiAaPQ)EBC4816306
035   $a(PPN)199769117
035   $a(EXLCZ)993710000001083948
100   $a20170302d2017      u|         0
101 0 $aeng
135   $aurnn|008mamaa
181   $ctxt$2rdacontent
182   $cc$2rdamedia
183   $acr$2rdacarrier
200 14$aThe Role of Pendrin in Health and Disease $eMolecular and Functional Aspects of the SLC26A4 Anion Exchanger /$fedited by Silvia Dossena, Markus Paulmichl
205   $a1st ed. 2017.
210  1$aCham :$cSpringer International Publishing :$cImprint: Springer,$d2017.
215   $a1 online resource (X, 226 p. 36 illus., 26 illus. in color.) 
311   $a3-319-43285-0 
311   $a3-319-43287-7 
320   $aIncludes bibliographical references at the end of each chapters and index.
327   $aPendrin and the Pendrin Consortium -- Pendrin role in the inner ear -- Pendrin role in the thyroid and Pendred syndrome -- Pendrin role in the kidney and hypertension -- Interplay between Pendrin and other renal transport molecules -- Pendrin role in the airways: links with asthma and COPD -- Pendrin expression and function in non-conventional sites -- Transcriptional regulation and epigenetics of Pendrin -- Models for Pendrin structure -- Genetic diagnosis of deafness -- Functional and molecular properties of Pendrin allelic variants -- Potential pharmacological interventions for Pendrin dysfunction.
330   $aThis book reviews the current state of knowledge on the genetics, molecular biology and physiology of pendrin, with a particular focus on pendrin dysfunction and the consequences for human health.  Pendrin is a membrane transport protein expressed in the thyroid, inner ear, kidney and airways, and was recently found in a variety of other tissues and organs. Pendrin malfunction may cause a genetic disease called Pendred syndrome or non-syndromic deafness. The book provides a thorough description of the multifaceted role of pendrin in human health and disease. As such, it offers an invaluable tool for physiology and pathology researchers, while also providing essential guidance for otorhinolaryngologists and endocrinologists in the diagnosis of Pendred syndrome and pendrin-related deafness.
606   $aMolecular biology
606   $aOtolaryngology
606   $aEndocrinology
606   $aHuman genetics
606   $aMolecular Medicine$3https://scigraph.springernature.com/ontologies/product-market-codes/B1700X
606   $aOtorhinolaryngology$3https://scigraph.springernature.com/ontologies/product-market-codes/H46007
606   $aEndocrinology$3https://scigraph.springernature.com/ontologies/product-market-codes/H33053
606   $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008
615  0$aMolecular biology.
615  0$aOtolaryngology.
615  0$aEndocrinology.
615  0$aHuman genetics.
615 14$aMolecular Medicine.
615 24$aOtorhinolaryngology.
615 24$aEndocrinology.
615 24$aHuman Genetics.
676   $a611.01816
702   $aDossena$b Silvia$4edt$4http://id.loc.gov/vocabulary/relators/edt
702   $aPaulmichl$b Markus$4edt$4http://id.loc.gov/vocabulary/relators/edt
906   $aBOOK
912   $a9910253909703321
996   $aThe Role of Pendrin in Health and Disease$91993955
997   $aUNINA